Mutagenetix > Incidental Mutation

Incidental Mutation 'R8005:Slitrk1'

616594

Institutional Source

Beutler Lab

Gene Symbol

Slitrk1

Ensembl Gene

ENSMUSG00000075478

Gene Name

SLIT and NTRK-like family, member 1

Synonyms

3200001I04Rik

MMRRC Submission

046045-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109147420-109151671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109150697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 5 (I5V)

Ref Sequence

ENSEMBL: ENSMUSP00000097897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100322]

AlphaFold

Q810C1

Predicted Effect

probably benign
Transcript: ENSMUST00000100322
AA Change: I5V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: I5V

Domain	Start	End	E-Value	Type
LRR	81	104	1.37e2	SMART
LRR	105	128	1.37e1	SMART
LRR	129	152	4.57e0	SMART
LRR_TYP	153	176	2.75e-3	SMART
LRR	180	200	1.92e2	SMART
LRRCT	212	262	3.45e-5	SMART
LRRNT	340	376	4.28e0	SMART
LRR	374	397	1.86e1	SMART
LRR	398	421	1.49e1	SMART
LRR	422	445	2.68e1	SMART
LRR	446	469	4.98e-1	SMART
LRR_TYP	470	493	6.52e-5	SMART
LRR	494	517	3.46e2	SMART
LRRCT	529	579	3.91e-4	SMART
transmembrane domain	621	643	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display hypoactivity, reduced male body weight, elevated anxiety- and depression-like behavior, increased norepinephrine content in brain, and partial postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,774 (GRCm39)	D294G	probably benign	Het
Ak8	A	T	2: 28,602,314 (GRCm39)	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,575,230 (GRCm39)	A154E	possibly damaging	Het
Anks1	A	G	17: 28,278,341 (GRCm39)	D1175G	probably damaging	Het
Ano4	T	A	10: 88,807,183 (GRCm39)	L799F	probably benign	Het
Aplp1	T	C	7: 30,135,470 (GRCm39)		probably null	Het
Apob	A	T	12: 8,059,744 (GRCm39)	H2742L	probably benign	Het
Apol7e	C	T	15: 77,602,277 (GRCm39)	Q292*	probably null	Het
Atp2b1	G	A	10: 98,830,661 (GRCm39)	G374D	probably damaging	Het
B4galt5	A	G	2: 167,143,384 (GRCm39)	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,882,456 (GRCm39)	T620A	probably benign	Het
Bco2	T	A	9: 50,450,213 (GRCm39)	D329V	probably damaging	Het
Cd200l2	T	C	16: 45,352,400 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Copg2	T	A	6: 30,873,632 (GRCm39)	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,599 (GRCm39)	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,628,808 (GRCm39)	G1121C	probably damaging	Het
Gas2l1	A	T	11: 5,011,552 (GRCm39)	S426T	probably benign	Het
Gm9195	T	A	14: 72,663,840 (GRCm39)	I2740F	probably benign	Het
Irgm1	A	G	11: 48,757,217 (GRCm39)	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655 (GRCm39)	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Ly75	A	T	2: 60,163,278 (GRCm39)	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,232,722 (GRCm39)	H432R	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Nup54	T	C	5: 92,576,006 (GRCm39)	I162V	probably benign	Het
Obsl1	T	A	1: 75,482,096 (GRCm39)	N258I	probably damaging	Het
Or1j4	A	G	2: 36,740,156 (GRCm39)	T33A	probably benign	Het
Or2y1b	G	T	11: 49,208,968 (GRCm39)	M198I	probably benign	Het
Or5p6	T	C	7: 107,631,470 (GRCm39)	R27G	possibly damaging	Het
Or5p73	T	C	7: 108,064,693 (GRCm39)	V54A	probably benign	Het
Pax2	G	A	19: 44,749,328 (GRCm39)	V20M	probably damaging	Het
Pigb	A	T	9: 72,922,546 (GRCm39)	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pik3c2a	T	C	7: 116,017,271 (GRCm39)	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,599,067 (GRCm39)	D61V	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pramel17	A	G	4: 101,694,448 (GRCm39)	V145A	probably damaging	Het
Prss46	A	G	9: 110,685,144 (GRCm39)	D256G	probably benign	Het
Rims1	G	T	1: 22,482,437 (GRCm39)	D196E		Het
Sbf1	A	G	15: 89,178,408 (GRCm39)	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,068,479 (GRCm39)	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,589,395 (GRCm39)	M51L	probably damaging	Het
Spart	T	A	3: 55,024,773 (GRCm39)	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303 (GRCm39)	R119K	possibly damaging	Het
Tasor2	C	T	13: 3,625,681 (GRCm39)	S1423N	probably benign	Het
Tbcc	T	C	17: 47,201,686 (GRCm39)	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,872,684 (GRCm39)	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,216,755 (GRCm39)	I170V	probably benign	Het
Ticrr	T	G	7: 79,343,796 (GRCm39)	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,130,507 (GRCm39)	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821 (GRCm39)	S771P	probably damaging	Het
Tsc2	G	A	17: 24,818,570 (GRCm39)	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,139,941 (GRCm39)	Y1175N	probably damaging	Het
Usp25	G	A	16: 76,873,956 (GRCm39)	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,563,124 (GRCm39)	Y58*	probably null	Het
Wt1	T	C	2: 104,957,789 (GRCm39)		probably null	Het
Zfp735	A	T	11: 73,603,140 (GRCm39)	K695*	probably null	Het
Zkscan14	A	G	5: 145,132,568 (GRCm39)	F321S	possibly damaging	Het
Zswim9	T	C	7: 12,995,064 (GRCm39)	E364G	probably damaging	Het

Other mutations in Slitrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Slitrk1	APN	14	109,149,269 (GRCm39)	missense	probably damaging	1.00
IGL00949:Slitrk1	APN	14	109,149,241 (GRCm39)	missense	probably damaging	0.98
IGL01556:Slitrk1	APN	14	109,150,450 (GRCm39)	missense	probably damaging	1.00
IGL01924:Slitrk1	APN	14	109,148,671 (GRCm39)	missense	probably benign	0.08
IGL02389:Slitrk1	APN	14	109,149,754 (GRCm39)	missense	probably benign
IGL02619:Slitrk1	APN	14	109,149,349 (GRCm39)	missense	probably benign	0.09
IGL02828:Slitrk1	APN	14	109,149,048 (GRCm39)	missense	possibly damaging	0.63
R0070:Slitrk1	UTSW	14	109,150,749 (GRCm39)	start gained	probably benign
R0135:Slitrk1	UTSW	14	109,149,061 (GRCm39)	missense	probably benign	0.00
R0627:Slitrk1	UTSW	14	109,149,671 (GRCm39)	missense	probably damaging	1.00
R1529:Slitrk1	UTSW	14	109,150,709 (GRCm39)	start codon destroyed	probably benign	0.33
R1661:Slitrk1	UTSW	14	109,149,359 (GRCm39)	missense	probably damaging	1.00
R1711:Slitrk1	UTSW	14	109,150,528 (GRCm39)	missense	probably benign	0.21
R1960:Slitrk1	UTSW	14	109,149,622 (GRCm39)	missense	probably damaging	0.96
R1961:Slitrk1	UTSW	14	109,149,622 (GRCm39)	missense	probably damaging	0.96
R4247:Slitrk1	UTSW	14	109,149,994 (GRCm39)	missense	possibly damaging	0.95
R4394:Slitrk1	UTSW	14	109,148,735 (GRCm39)	missense	probably benign	0.01
R5027:Slitrk1	UTSW	14	109,149,740 (GRCm39)	missense	probably benign
R5241:Slitrk1	UTSW	14	109,150,444 (GRCm39)	missense	probably benign	0.27
R5599:Slitrk1	UTSW	14	109,149,244 (GRCm39)	missense	probably benign	0.00
R5835:Slitrk1	UTSW	14	109,149,004 (GRCm39)	missense	possibly damaging	0.94
R6224:Slitrk1	UTSW	14	109,149,454 (GRCm39)	missense	probably damaging	1.00
R6489:Slitrk1	UTSW	14	109,148,735 (GRCm39)	missense	possibly damaging	0.63
R6504:Slitrk1	UTSW	14	109,149,129 (GRCm39)	missense	probably benign	0.14
R7102:Slitrk1	UTSW	14	109,150,061 (GRCm39)	missense	probably benign	0.01
R7346:Slitrk1	UTSW	14	109,150,591 (GRCm39)	missense	possibly damaging	0.89
R7413:Slitrk1	UTSW	14	109,149,357 (GRCm39)	nonsense	probably null
R8258:Slitrk1	UTSW	14	109,148,653 (GRCm39)	missense	probably benign	0.05
R8259:Slitrk1	UTSW	14	109,148,653 (GRCm39)	missense	probably benign	0.05
R8906:Slitrk1	UTSW	14	109,149,139 (GRCm39)	missense	probably damaging	0.99
R9136:Slitrk1	UTSW	14	109,148,981 (GRCm39)	missense
R9150:Slitrk1	UTSW	14	109,149,101 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGTGAGGGAATTGCCATGC -3'
(R):5'- CGTCTGGGCTATTGCAGTAC -3'

Sequencing Primer
(F):5'- TGCCATGCAGAAATAAATGGTAAAAC -3'
(R):5'- GCTATTGCAGTACGGGGG -3'

Posted On

2020-01-23